RASA1 Polyclonal Antibody

disease:Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:608355]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb.,disease:Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]. CMAVM is a disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.,disease:Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.,function:Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21.,PTM:The N-terminus is blocked.,similarity:Contains 1 C2 domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 Ras-GAP domain.,similarity:Contains 1 SH3 domain.,similarity:Contains 2 SH2 domains.,subunit:Interacts with SQTSM1. Interacts with SPSB1. Interaction with SPSB1 does not promote degradation.,